Muscle-specific kinase antibodies: A novel cause of peripheral nerve hyperexcitability?

Muscle and Nerve

Volumn 48, Issue 5, 2013, Pages 819-823

  Simon, Neil G ^a   Reddel, Stephen W ^b   Kiernan, Matthew C ^c   Layzer, Robert ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b University of Sydney   (Australia)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

Fasciculations; MuSK; Myasthenia gravis; Neuromyotonia; Peripheral nerve hyperexcitability

Indexed keywords

ANTINUCLEAR ANTIBODY; MEMBRANE PROTEIN; MUSCLE SPECIFIC KINASE; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PREDNISONE; PYRIDOSTIGMINE; UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ANTIBODY TITER; ARTICLE; BULBAR PARALYSIS; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; ELECTROMYOGRAM; FACE MUSCLE; FASCICULATION; FEMALE; HUMAN; MALE; MOTOR NERVE CONDUCTION; MOTOR UNIT POTENTIAL; MYOKYMIA; NEUROLOGIC EXAMINATION; NEUROMUSCULAR SYNAPSE; PERIPHERAL NERVE HYPEREXCITABILITY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SEROLOGY;

FASCICULATIONS; MUSK; MYASTHENIA GRAVIS; NEUROMYOTONIA; PERIPHERAL NERVE HYPEREXCITABILITY;

ACETYLCHOLINESTERASE; AUTOANTIBODIES; ELECTROMYOGRAPHY; FACIAL MUSCLES; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; NEUROMUSCULAR JUNCTION; PERIPHERAL NERVOUS SYSTEM DISEASES; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTORS, CHOLINERGIC; SYNAPTIC TRANSMISSION; TONGUE;

EID: 84886746314     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23907     Document Type: Article

References (36)

1. Evoli A, Tonali PA, Padua L, Monaco ML, Scuderi F, Batocchi AP, et al. Clinical correlates with anti-MuSK antibodies in generalized seronegative myasthenia gravis. Brain 2003;126:2304-2311.
2. Punga AR, Sawada M, Stålberg EV. Electrophysiological signs and the prevalence of adverse effects of acetylcholinesterase inhibitors in patients with myasthenia gravis. Muscle Nerve 2008;37:300-307.
3. Vernino S, Auger RG, Emslie-Smith AM, Harper CM, Lennon VA. Myasthenia, thymoma, presynaptic antibodies, and a continuum of neuromuscular hyperexcitability. Neurology 1999;53:1233-1239.
4. Scaioli V, Andreetta F, Mantegazza R. Unusual neurophysiological and immunological findings in myasthenia gravis: a case report. J Peripher Nerv Syst 2004;9:92-97.
5. Rubio-Agusti I, Perez-Miralles F, Sevilla T, Muelas N, Chumillas MJ, Mayordomo F, et al. Peripheral nerve hyperexcitability: a clinical and immunologic study of 38 patients. Neurology 2011;76:172-178.
6. Irani SR, Pettingill P, Kleopa KA, Schiza N, Waters P, Mazia C, et al. Morvan syndrome: clinical and serological observations in 29 cases. Ann Neurol 2012;72:241-255.
7. Punga AR, Flink R, Askmark H, Stålberg EV. Cholinergic neuromuscular hyperactivity in patients with myasthenia gravis seropositive for MuSK antibody. Muscle Nerve 2006;34:111-115.
8. Stålberg EV, Sonoo M. Assessment of variability in the shape of the motor unit action potential, the "jiggle, " at consecutive discharges. Muscle Nerve 1994;17:1135-1144.
9. Bacsi AM, Kiernan MC. Changes in axonal excitability and burst pattern behaviour in synkinesis. J Clin Neurosci 2008;15:1288-1290.
10. Kiernan MC, Hart IK, Bostock H. Excitability properties of motor axons in patients with spontaneous motor unit activity. J Neurol Neurosurg Psychiatry 2001;70:56-64.
11. Burrell JR, Vucic S, Kiernan MC. Isolated bulbar phenotype of amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2011;12:283-289.
12. Cole RN, Reddel SW, Gervasio OL, Phillips WD. Anti-MuSK patient antibodies disrupt the mouse neuromuscular junction. Ann Neurol 2008;63:782-789.
13. Cole RN, Ghazanfari N, Ngo ST, Gervasio OL, Reddel SW, Phillips WD. Patient autoantibodies deplete postsynaptic muscle-specific kinase leading to disassembly of the ACh receptor scaffold and myasthenia gravis in mice. J Physiol 2010;588:3217-3229.
14. Evoli A, Lindstrom J. Myasthenia gravis with antibodies to MuSK. Neurology 2011;77:1783-1784.
15. Cartaud A, Strochlic L, Guerra M, Blanchard B, Lambergeon M, Krejci E, et al. MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction. J Cell Biol 2004;165:505-515.
16. Kawakami Y, Ito M, Hirayama M, Sahashi K, Ohkawara B, Masuda A, et al. Anti-MuSK autoantibodies block binding of collagen Q to MuSK. Neurology 2011;77:1819-1826.
17. Richman DP, Nishi K, Morell SW, Chang JM, Ferns MJ, Wollmann RL, et al. Acute severe animal model of anti-muscle specific kinase myasthenia. Arch Neurol 2012;68:453-460.
18. Harrison TB, Benatar M. Accuracy of repetitive nerve stimulation for diagnosis of the cramp-fasciculation syndrome. Muscle Nerve 2007;35:776-780.
19. Masland RL, Wigton RS. Nerve activity accompanying fasciculation produced by prostigmin. J Neurophysiol 1940;3:269-275.
20. Brown GL. Action potentials of normal mammalian muscle. Effects of acetylcholine and eserine. J Physiol 1937;89:220-237.
21. Layzer RB. The origin of muscle fasciculations and cramps. Muscle Nerve 1994;17:1243-1249.
22. Maddison P, Mills KR, Newsom-Davis J. Clinical electrophysiological characterization of the acquired neuromyotonia phenotype of autoimmune peripheral nerve hyperexcitability. Muscle Nerve 2006;33:801-808.
23. Arimura K, Arimura Y, Ng A, Uehara A, Nakae M, Osame M, Stålberg E. The origin of spontaneous discharges in acquired neuromyotonia. A macro EMG study. Clin Neurophysiol 2005;116:1835-1839.
24. Roth G. The origin of fasciculations. Ann Neurol 1982;12:542-547.
25. Minic J, Chatonnet A, Krejci E, Molgó J. Butyrylcholinesterase and acetylcholinesterase activity and quantal transmitter release at normal and acetylcholinesterase knockout mouse neuromuscular junctions. Br J Pharmacol 2003;138:177-187.
26. Klooster R, Plomp JJ, Huijbers MG, Niks EH, Straasheijm KR, Detmers FJ, et al. Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice. Brain 2012;135:1081-1101.
27. Viegas S, Jacobson L, Waters P, Cossins J, Jacob S, Leite MI, et al. Passive and active immunization models of MuSK-Ab positive myasthenia: electrophysiological evidence for pre and postsynaptic defects. Exp Neurol 2012;234:506-512.
28. Morsch M, Reddel SW, Ghazanfari N, Toyka KV, Phillips WD. Muscle specific kinase autoantibodies cause synaptic failure through progressive wastage of postsynaptic acetylcholine receptors. Exp Neurol 2012;237:286-295.
29. Minic J, Molgo J, Karlsson E, Krejci E. Regulation of acetylcholine release by muscarinic receptors at the mouse neuromuscular junction depends on the activity of acetylcholinesterase. Eur J Neurosci 2002;15:439-448.
30. Bowman WC, Prior C, Marshall IG. Presynaptic receptors in the neuromuscular junction. Ann NY Acad Sci 1990;604:69-81.
31. Dajas-Bailador F, Wonnacott S. Nicotinic acetylcholine receptors and the regulation of neuronal signalling. Trends Pharmacol Sci 2004;25:317-324.
32. Morsch M, Reddel SW, Ghazanfari N, Toyka KV, Phillips WD. Pyridostigmine but not 3, 4-diaminopyridine exacerbates ACh receptor loss and myasthenia induced in mice by muscle specific kinase autoantibody. J Physiol 2013;591:2747-2762.
33. Takamori M, Nakamura T, Motomura M. Antibodies against Wnt receptor of muscle-specific tyrosine kinase in myasthenia gravis. J Neuroimmunol 2013;254:183-186.
34. Hart IK, Maddison P, Newsom-Davis J, Vincent A, Mills KR. Phenotypic variants of autoimmune peripheral nerve hyperexcitability. Brain 2002;125:1887-1895.
35. Punga AR, Lin S, Oliveri F, Meinen S, Ruegg MA. Muscle-selective synaptic disassembly and reorganization in MuSK antibody positive MG mice. Exp Neurol 2011;230:207-217.
36. Punga AR, Flink R, Askmark H, Stalberg EV. Cholinergic neuromuscular hyperactivity in patients with myasthenia gravis seropositive for MuSK antibody. Muscle Nerve 2006;34:111-115.